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부신백질이영양증 : 시장 인사이트, 역학 및 예측(2036년)

Adrenoleukodystrophy - Market Insight, Epidemiology, and Market Forecast - 2036

발행일: | 리서치사: 구분자 DelveInsight | 페이지 정보: 영문 200 Pages | 배송안내 : 2-10일 (영업일 기준)

    
    
    




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부신백질이영양증(ALD)에 대한 인사이트 및 동향

  • 소아기에 발병하는 뇌형 부신백질이영양증은 여전히 가장 중증인 질환 유형이며, 조기에 개입하지 않을 경우 급속한 신경학적 악화로 인해 중증 장애나 사망으로 이어집니다.
  • 신생아 선별검사 및 유전자 검사의 도입이 확대됨에 따라, 위험군에 속하는 개인을 조기에 발견하는 능력이 향상되었으며, 돌이킬 수 없는 신경학적 손상이 발생하기 전에 적시에 경과 관찰과 개입이 가능해졌습니다.
  • 현재의 치료는 대증요법, 부신 호르몬 보충 요법, 그리고 조혈모세포 이식(HSCT)을 중심으로 이루어지고 있으며, HSCT는 조기 뇌형 질환을 가진 적격 환자에 대한 표준적인 질환 수정 요법으로 자리 잡고 있습니다.
  • 에리발드겐 오테템셀(SKYSONA)의 승인은 이식에 적합한 기증자를 찾지 못한 초기 활동성 뇌형 부신백질이영양증 환자를 대상으로 한 최초의 유전자 치료법을 도입함으로써, 치료 전망에 있어 큰 진전을 가져왔습니다.
  • 2025년, 혈액 악성 종양 사례 보고를 받아 갱신된 SKYSONA의 FDA 안전성 라벨에서는 유전자 치료 시행 시 장기적인 안전성 모니터링과 신중한 환자 선정의 중요성이 강조되었습니다.
  • 최근 치료법이 발전했음에도 불구하고, 특히 부신수질신경증(AMN)이나 진행기 질환을 앓고 있는 환자들 사이에서는 효과적인 질환 수정 치료의 선택지가 여전히 제한적이기 때문에 충족되지 않은 의료적 요구가 여전히 많이 남아 있습니다.
  • 개발 파이프라인은 기전 기반 치료 접근법으로의 전환을 반영하여, 초장쇄 지방산 대사, 신경 염증, 미토콘드리아 기능 장애 및 신경 퇴행을 표적으로 하는 치료법에 점점 더 초점을 맞추었습니다.

'부신백질이영양증(ALD) 질환' 시장 보고서는 표준 치료, 임상 실무, 진화하는 치료 알고리즘 등 현재의 치료 현황에 대한 종합적인 분석을 제공합니다. 본 보고서에서는 ALD 질환의 환자 부담 동향, 수익 및 시장 점유율 동향, 피크 시기의 환자 점유율 및 치료 도입률 분석을 평가함과 동시에, 세계 각 지역 시장 규모에 대한 상세한 평가 및 성장률 예측(과거 데이터 및 2022-2036년 예측)을 제시하고 있습니다. 본 보고서에서는 ALD 분야의 주요 미충족 수요 사항을 부각시키고, 경쟁 구도 및 임상 현황을 분석함으로써 고부가가치의 성장 기회를 도출하며, 향후 시장 성장 가능성에 대한 명확한 전망을 제시하고 있습니다.

부신백질이영양증(ALD) 질환 시장을 주도하는 주요 요인

중증이며 진행성인 다기관 질환으로 인한, 뿌리 깊은 높은 미충족 의료 수요

부신백질이영양증은 진행성 신경 기능 저하, 부신 기능 장애 및 심각한 장기적 장애를 특징으로 하는 희귀 유전성 질환으로, 중증형의 경우 치료법이 존재함에도 불구하고 급속한 병세 진행과 높은 사망률을 초래합니다.

신생아 선별검사의 확대에 따라 진단 및 치료가 가능한 환자 수가 증가하고 있습니다.

신생아 선별검사의 보급으로 인해 증상이 나타나기 전 진단과 조기 개입이 가능해지면서, ALD 환자로 확인될 수 있는 환자군이 확대되고 있습니다.

분자생물학이 명확히 규명됨에 따라 표적 치료법의 개발이 가능해졌습니다.

유전적 기전이 충분히 규명되었고, 측정 가능한 바이오마커가 존재하기 때문에 조기 진단이 가능해졌으며, 부신백질이영양증에 대한 표적 치료제 개발이 촉진되고 있습니다.

부신백질이영양증(ALD)의 질환 이해 및 치료 알고리즘

부신백질이영양증(ALD) 개요

ALD는 ABCD1 유전자의 변이로 인해 발생하는 희귀한 X-연관 과산화체 질환으로, 이로 인해 초장쇄 지방산의 분해가 저해되어 축적이 일어납니다. 그 결과, 중추신경계에서 진행성 염증성 탈수초화, 척수 변성 및 부신피질 기능 장애를 유발하여 광범위한 임상 양상을 보입니다. 이 질환은 일반적으로 심각한 인지 기능 및 운동 기능 저하를 동반하는 급속히 진행되는 신경퇴행성 질환인 ' '소아기 발병 뇌형 ALD'와, 경련성 사지마비 및 고립성 부신 기능 부전을 유발하는 서서히 진행되는 성인기 발병 척수 질환인 '부신수질신경증'으로 나타납니다. 전반적으로, 이는 독성 지질의 축적과 신경 염증에 의해 유발되며, 발병 시기와 중증도에 큰 편차가 있는 진행성 다계통 질환입니다.

부신백질이영양증(ALD)의 진단

부신백질이영양증의 진단은 생화학적 검사, 유전학적 확인 및 신경 영상 검사를 바탕으로 이루어집니다. 주요 선별 검사는 퍼옥시좀 대사 장애를 반영하는 혈장 내 초장쇄 지방산 수치의 상승입니다. 확정 진단은 ABCD1 유전자에서 병원성 변이를 확인함으로써 이루어집니다. 뇌 질환의 경우, 뇌 MRI를 통해 특징적인 백질의 탈수초화를 확인합니다. 대부분의 경우 후두부에 국한되어 있으며, 활동성 염증성 병변에서는 조영 증강이 관찰됩니다. 또한, 동반된 원발성 부신 기능 부전을 평가하기 위해 부신 기능 검사도 실시됩니다. 이러한 검사를 종합적으로 실시함으로써, 신생아 선별검사를 통한 무증상기 발견을 포함하여 조기적이고 정확한 진단이 가능해집니다.

부신백질이영양증(ALD)의 치료

부신백질이영양증의 치료는 조기 질환 수정적 중재, 뇌 병변의 진행 예방, 그리고 내분비 및 신경학적 합병증에 대한 평생 관리를 중심으로 이루어집니다. 조기 뇌형 부신백질이영양증의 경우, 주요 질환 수식 치료법으로는 조혈모세포 이식(HSCT) 및 체외 렌티바이러스 유전자 치료(에리발드겐·오테템셀)가 있습니다. 이 약제들은 모두 신경학적 기능이 현저하게 저하되기 전에 투여된다면, 염증성 탈수초화를 안정화시키거나 그 진행을 늦출 수 있습니다.

지지 요법에는 모든 표현형에서 공통적으로 나타나는 원발성 부신 기능 부전에 대한 평생 글루코코르티코이드 보충 요법이 포함됩니다. 부신수질신경증 환자의 경우, 이 표현형에 대한 질병 수정 요법이 현재 확립되어 있지 않기 때문에 물리치료, 경직 관리, 방광 증상 조절 등을 포함한 대증 요법 및 재활 치료를 통해 관리됩니다.

부신백질이영양증(ALD)의 역학

부신백질이영양증(ALD)의 역학 분석 및 예측에 관한 주요 조사 결과

  • DelveInsight에 따르면, 2025년 미국의 ALD 유병률은 약 2만 1,000건으로 추정되지만, 진단을 받은 환자 수는 약 6,000명이었습니다.
  • 퍼옥시좀에 영향을 미치는 가장 흔한 유전성 질환은 전 세계적으로 약 2만 명 중 1명에서 5만 명 중 1명의 비율로 보고되고 있지만, N-ALD는 신생아 약 5만 명 중 1명에게서 발병합니다.
  • ALD는 약 1만 8,000명 중 1명의 비율로 발병합니다. ABCD1 변이를 가진 남아의 35-40%가 뇌 질환을 발병하는 반면, 이 변이를 보유한 어머니는 해당 변이를 자녀에게 유전시킬 위험이 50%입니다.
  • 소아기 뇌 탈수초성 ALD가 가장 흔한 유형으로, 전체 증례의 약 45%를 차지합니다. 이 유형은 미엘린의 염증성 파괴를 특징으로 하며, 급격한 신경 기능 저하를 초래하고, 대부분의 경우 5년 이내에 식물인간 상태나 사망에 이르게 됩니다.
  • 남성 약 2만 명 중 1명은 ALD를 앓으며 태어납니다. 여성은 대개 보균자 상태에 머무릅니다. 여성의 경우 증상이 나타나지 않거나, 아주 경미한 증상만 나타나는 경우가 있습니다.

부신백질이영양증(ALD) 시장 전망

부신백질이영양증 시장은 여전히 현저히 미충족된 상태입니다. 현재의 치료 옵션은 조기 뇌형 질환을 가진 적격 환자에 대한 조혈모세포 이식(HSCT)과, 기타 대부분의 표현형에 대한 대증 요법으로 거의 한정되어 있습니다. 부신수질신경증(AMN) 및 진행성 뇌형 질환 환자들은 승인된 질환 수정 요법이 존재하지 않기 때문에 여전히 큰 미충족 의료 수요에 직면해 있으며, 이에 따라 새로운 치료 접근법에 대한 강력한 수요가 대두되고 있습니다.

조기 활동성 뇌형 부신백질이영양증에 대한 최초의 유전자 치료제인 'SKYSONA'의 승인으로, 치료 전망이 달라졌습니다. 'SKYSONA'는 유전자 기반 질환 수정 가능성을 보여주고 있지만, 적격 환자의 범위가 좁고, 전문적인 치료 요건이 있으며, 장기적인 안전성 모니터링이 필요하기 때문에 그 보급은 제한적일 것으로 예측됩니다. 따라서, 더 광범위하게 적용할 수 있는 치료법에는 여전히 큰 기회가 남아 있습니다.

개발 파이프라인에서는 초장쇄 지방산 대사, 신경 염증, 미토콘드리아 기능 장애를 표적으로 하는 대사적 및 신경 보호적 접근법에 대한 관심이 높아지고 있습니다. 렐리그리타존이나 VK0214와 같은 신흥 치료법은 특히 현재 승인된 질환 수정 요법이 없는 AMN 환자들에게 치료 선택지를 확대할 가능성을 지니고 있습니다.

  • G7(주요 7개국) 중 ALD 질환 시장 점유율이 가장 높을 것으로 예상되는 나라는 미국이며, 2036년까지 상당한 성장이 전망됩니다.

ABCD1 유전자 치환 요법 : 유전자 치료는 부신백질이영양증에서 유일하게 승인된 질환 수정 요법의 한 유형입니다. SKYSONA는 자가 유래 유전자 변형 조혈모세포를 통해 기능적인 ABCD1 발현을 회복시켜, 초기 활동성 뇌형 부신백질이영양증을 앓고 있는 적격 환자에서 뇌 병변의 진행을 안정화시키는 것을 목표로 합니다.

PPAR-Y 작용제 : 이 치료제군의 대표적인 예인 렐리그리타존은 부신백질이영양증에 수반되는 신경염증, 미토콘드리아 기능 장애 및 신경퇴행을 치료하기 위해 개발이 진행되고 있습니다. 이 치료제군은 이식이나 유전자 치료와 같이 치료 적용 범위가 제한적인 상황을 넘어, 질환 경과를 조절하는 접근법을 제공하는 것을 목적으로 하고 있습니다.

갑상선 호르몬 수용체 β 작용제인 VK0214는 기능 부전을 보이는 ABCD1을 부분적으로 보완할 가능성이 있는 보상성 수송체인 ABCD2의 발현을 증가시키도록 설계되어 있으며, 이를 통해 초장쇄 지방산의 대사를 촉진하고 지질 축적을 완화합니다.

전반적으로 볼 때, 현재 부신백질이영양증에 대한 가장 진보된 질환 수정 치료법은 유전자 치환 요법이지만, PPAR-Y 작용제, 갑상선 호르몬 수용체 β 작용제, AMPK 활성화제 등 대사를 표적으로 하는 새로운 약물군이 등장하고 있으며, 특히 부신수질신경증이나 진행기 질환 환자를 포함한 더 광범위한 환자 집단에 대응할 수 있는 가능성을 지니고 있어 개발 파이프라인을 확대되고 있습니다.

자주 묻는 질문

  • 부신백질이영양증(ALD)의 주요 치료법은 무엇인가요?
  • 부신백질이영양증(ALD)의 유병률은 어떻게 되나요?
  • 부신백질이영양증(ALD)의 진단 방법은 무엇인가요?
  • 부신백질이영양증(ALD) 시장의 주요 미충족 수요는 무엇인가요?
  • 부신백질이영양증(ALD) 치료의 발전 방향은 어떻게 되나요?
  • 부신백질이영양증(ALD) 시장에서 SKYSONA의 역할은 무엇인가요?

목차

제1장 주요 인사이트

제2장 서론

제3장 주요 요약

제4장 주요 이벤트

제5장 부신백질이영양증 : 역학 및 예측 조사 방법

제6장 부신백질이영양증 : 시장 개요

제7장 부신백질이영양증 : 질환 배경 및 개요

제8장 치료 및 가이드라인

제9장 부신백질이영양증 : 역학 및 환자 인구

제10장 부신백질이영양증 : 환자 경과

제11장 시판 치료제

제12장 신흥 치료법

제13장 부신백질이영양증 : 주요 7개국 분석

제14장 부신백질이영양증 : 미충족 수요

제15장 부신백질이영양증 : SWOT 분석

제16장 부신백질이영양증 : KOL(Key Opinion Leader)의 견해

제17장 시장 참여 및 상환

제18장 부록

제19장 DelveInsight의 서비스 내용

제20장 면책사항

제21장 DelveInsight에 대해

KTH

Adrenoleukodystrophy (ALD) Disease Insights and Trends

  • Childhood cerebral adrenoleukodystrophy remains the most severe disease phenotype, with rapid neurological deterioration leading to significant disability and mortality if intervention is not initiated at an early stage.
  • Increasing adoption of newborn screening and genetic testing has improved early identification of at-risk individuals, enabling timely surveillance and intervention before irreversible neurological damage occurs.
  • Current management remains centered on supportive care, adrenal hormone replacement, and hematopoietic stem cell transplantation (HSCT), with HSCT continuing to be the standard disease-modifying treatment for eligible patients with early cerebral disease.
  • The approval of elivaldogene autotemcel (SKYSONA) marked a significant advancement in the treatment landscape by introducing the first gene therapy for patients with early active cerebral adrenoleukodystrophy who lack a suitable matched donor for transplantation.
  • In 2025, updated FDA safety labeling for SKYSONA, following reports of hematologic malignancies, highlighted the importance of long-term safety monitoring and careful patient selection in gene therapy use.
  • Despite recent therapeutic advances, substantial unmet need persists, particularly among patients with adrenomyeloneuropathy (AMN) and advanced disease, where effective disease-modifying treatment options remain limited.
  • The development pipeline is increasingly focused on therapies targeting very-long-chain fatty acid metabolism, neuroinflammation, mitochondrial dysfunction, and neurodegeneration, reflecting a shift toward mechanism-based treatment approaches.

DelveInsight's 'Adrenoleukodystrophy (ALD) Disease - Market Insights, Epidemiology and Market Forecast - 2036' report delivers an in-depth understanding of the ALD Disease, historical and forecasted epidemiology, as well as the ALD Disease market trends in the United States, EU4 (Germany, Spain, Italy, and France), and the United Kingdom, and Japan.

The Adrenoleukodystrophy (ALD) Disease market report delivers a comprehensive analysis of the current treatment landscape, including standards of care, clinical practices, and evolving therapeutic algorithms. It evaluates ALD Disease patient burden trends, revenue & market share dynamics, peak patient share & therapy uptake analysis, and provides an in-depth market size assessment, and growth rate projections (Historical & Forecast 2022-2036) across global regions. The report highlights key unmet medical needs in ALD Disease and maps the competitive and clinical landscape to uncover high-value opportunities, providing a clear outlook on future market growth potential.

Key Factors Driving the Adrenoleukodystrophy (ALD) Disease Market

Persistent high unmet medical need due to severe, progressive multi-system disease

Adrenoleukodystrophy is a rare genetic disorder characterized by progressive neurologic decline, adrenal dysfunction, and significant long-term disability, with severe forms causing rapid disease progression and high mortality despite available treatments.

Expansion of newborn screening is increasing the diagnosed and treatable population

Widespread newborn screening enables presymptomatic diagnosis, earlier intervention, and expansion of the identifiable ALD disease patient population.

Well-defined molecular biology enabling targeted therapeutic development

A well-characterized genetic basis and measurable biomarkers enable early diagnosis and drive the development of targeted therapies for adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) Disease Understanding and Treatment Algorithm

Adrenoleukodystrophy (ALD) Disease Overview

ALD is a rare X-linked peroxisomal disorder caused by mutations in the ABCD1 gene, leading to impaired degradation and accumulation of very-long-chain fatty acids. This results in progressive inflammatory demyelination in the central nervous system, spinal cord degeneration, and adrenal cortex dysfunction, producing a broad clinical spectrum. The disease commonly presents as childhood cerebral ALD, a rapidly progressive neurodegenerative form with severe cognitive and motor decline; adrenomyeloneuropathy, a slowly progressive adult-onset spinal cord disorder causing spastic paraparesis and isolated adrenal insufficiency. Overall, it is a progressive multisystem disease with highly variable onset and severity driven by toxic lipid accumulation and neuroinflammation.

Adrenoleukodystrophy (ALD) Disease Diagnosis

Diagnosis of adrenoleukodystrophy is based on biochemical testing, genetic confirmation, and neuroimaging assessment. The key screening test is elevated plasma very-long-chain fatty acids, reflecting impaired peroxisomal metabolism. Definitive diagnosis is established by identification of pathogenic variants in the ABCD1 gene. In cerebral disease, brain MRI is used to detect characteristic white matter demyelination, often with posterior predominance and contrast enhancement in active inflammatory lesions. Adrenal function testing is also performed to assess associated primary adrenal insufficiency. Together, these investigations enable early and accurate diagnosis, including presymptomatic detection through newborn screening programs.

Adrenoleukodystrophy (ALD) Disease Treatment

Treatment of adrenoleukodystrophy is centered on early disease-modifying intervention, prevention of cerebral disease progression, and lifelong management of endocrine and neurological complications. In early cerebral adrenoleukodystrophy, the primary disease-modifying options are HSCT and ex vivo lentiviral gene therapy (elivaldogene autotemcel), both of which can stabilize or slow inflammatory demyelination when administered before advanced neurologic decline.

Supportive therapy includes lifelong glucocorticoid replacement for primary adrenal insufficiency, which is common across phenotypes. Patients with adrenomyeloneuropathy are managed with symptomatic and rehabilitative care, including physical therapy, spasticity management, and bladder symptom control, as no disease-modifying therapy is currently established for this phenotype.

Adrenoleukodystrophy (ALD) Disease Unmet Needs

The section "unmet needs of ALD Disease" outlines the critical gaps between the current state of patient care, diagnosis, and the ideal & effective management of the disease. It highlights the obstacles experienced by patients, clinicians, and researchers and identifies potential solutions for future progress.

1. Limited disease-modifying options are restricted to early cerebral disease

2. Narrow therapeutic window in cerebral adrenoleukodystrophy

3. Progressive neurological decline despite current interventions in advanced disease

4. No approved therapy targeting adrenomyeloneuropathy progression, and others.....

Adrenoleukodystrophy (ALD) Disease Membrane Epidemiology

Key Findings from Adrenoleukodystrophy (ALD) Disease Epidemiological Analysis and Forecast

  • In 2025, the prevalence of ALD in the United States was estimated at nearly 21,000 cases, while the diagnosed patient population was approximately 6,000, according to DelveInsight.
  • The most prevalent genetic disorder affecting peroxisomes has been reported in approximately 1 in 20,000 to 1 in 50,000 individuals worldwide, whereas N-ALD affects about 1 in 50,000 newborns.
  • ALD affects approximately 1 in 18,000 individuals; 35-40% of boys carrying an ABCD1 mutation develop cerebral disease, while carrier mothers have a 50% risk of transmitting the mutation to their children.
  • Childhood cerebral demyelinating ALD is the most common form, accounting for about 45% of cases, and is characterized by inflammatory destruction of myelin that leads to rapid neurological decline, often resulting in a vegetative state or death within five years.
  • About 1 in 20,000 males are born with ALD. Females are typically only carriers. Females may have no or very mild symptoms.

Adrenoleukodystrophy (ALD) Disease Drug Analysis & Competitive Landscape

The ALD Disease drug chapter provides a detailed, market-focused review of the approved and emerging pipeline across Phase I-III clinical trials. It covers the mechanism of action, clinical trial data, regulatory approvals, patents, collaborations, and strategic partnerships for each therapy, along with their advantages, limitations, and recent developments. This section offers critical insights into the ALD Disease treatment landscape, supporting market assessment, competitive analysis, and growth forecasting for the ALD Disease therapeutics market.

Approved Therapies for Adrenoleukodystrophy (ALD) Disease

Elivaldogene autotemcel (SKYSONA): Genetix Biotherapeutics

SKYSONA is an autologous hematopoietic stem cell gene therapy designed to correct the underlying ABCD1 gene defect in adrenoleukodystrophy. As the first approved gene therapy for cerebral adrenoleukodystrophy, it represents a significant shift from supportive care and transplantation-based approaches toward targeted disease modification, particularly for patients without a suitable donor for hematopoietic stem cell transplantation.

The therapy received US FDA approval in September 2022 for boys aged 4-17 years with early active cerebral adrenoleukodystrophy who lack an HLA-matched donor. However, broader adoption may be constrained by its specialized administration, limited eligible patient population, and evolving safety profile. In August 2025, the FDA required updated safety labeling following reports of hematologic malignancies, reinforcing the need for long-term safety monitoring and careful patient selection.

Adrenoleukodystrophy (ALD) Disease Pipeline Analysis

Leriglitazone (MIN-102): Minoryx Therapeutics and Neuraxpharm

Leriglitazone is an investigational, brain-penetrant, selective PPAR-Y agonist designed to modulate pathways involved in mitochondrial function, lipid metabolism, neuroinflammation, and oxidative stress. The therapy aims to address key pathogenic mechanisms of X-linked ALD by improving cellular energy homeostasis and reducing neuroinflammatory processes associated with very-long-chain fatty acid (VLCFA) accumulation. Leriglitazone is being developed for both cerebral adrenoleukodystrophy (cALD) and adrenomyeloneuropathy (AMN).

Minoryx Therapeutics reported that leriglitazone met the primary endpoint of the pivotal NEXUS trial in pediatric cALD, supporting its potential as a disease-modifying therapy. Based on these results, the company submitted a Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) for the treatment of pediatric and adult male patients with cALD. The application was validated by the EMA in July 2025.

VK0214: Viking Therapeutics

VK0214 is an oral thyroid hormone receptor-B (TRB) agonist designed to reduce the accumulation of very-long-chain fatty acids in patients with X-linked ALD. By selectively activating TRB pathways, the drug enhances metabolic pathways that promote the breakdown of very-long-chain fatty acids (VLCFA), which are central to ALD disease pathology. VK0214 is being investigated primarily for patients with AMN, the adult form of ALD. Received orphan drug designation (ODD) from the FDA for VK0214 for the treatment of X-ALD in December 2016.

Adrenoleukodystrophy (ALD) Disease Key Players, Market Leaders, and Emerging Companies

  • Genetix Biotherapeutics
  • Minoryx Therapeutics and Neuraxpharm
  • Viking Therapeutics
  • Poxel

Adrenoleukodystrophy (ALD) Disease Drug Updates

  • In July 2025, Minoryx Therapeutics announced that leriglitazone met the primary endpoint in the pivotal NEXUS trial in pediatric cerebral ALD patients, demonstrating stabilization of neurological disease progression. Following these results, the company submitted an MAA to the EMA.
  • In October 2024, Viking Therapeutics announced the positive data from the Phase Ib clinical trial of VK0214 in patients with X-linked ALD. The Results from this study showed VK0214 to be safe and well-tolerated following once-daily dosing over the 28-day study period.

Adrenoleukodystrophy (ALD) Disease Market Outlook

The adrenoleukodystrophy market remains significantly underserved, with current treatment options largely limited to HSCT for eligible patients with early cerebral disease and supportive care for most other phenotypes. Patients with adrenomyeloneuropathy (AMN) and advanced cerebral disease continue to face substantial unmet needs due to the absence of approved disease-modifying therapies, creating a strong demand for novel therapeutic approaches.

The treatment landscape has evolved with the approval of SKYSONA, the first gene therapy for early active cerebral adrenoleukodystrophy. While SKYSONA has demonstrated the potential of gene-based disease modification, its adoption is expected to be limited by narrow patient eligibility, specialized treatment requirements, and the need for long-term safety monitoring, leaving significant opportunities for therapies with broader applicability.

The pipeline is increasingly focused on metabolic and neuroprotective approaches targeting very-long-chain fatty acid metabolism, neuroinflammation, and mitochondrial dysfunction. Emerging therapies such as Leriglitazone and VK0214 have the potential to expand treatment options, particularly for patients with AMN, where no approved disease-modifying therapies currently exist.

  • The United States is expected to account for the largest market share of ALD Disease among the 7MM, with projected significant growth through 2036.

Drug Class/Insights into Leading Emerging and Marketed Therapies in Adrenoleukodystrophy (ALD) Disease (2022-2036 Forecast)

The ALD treatment landscape is evolving from supportive management toward gene replacement and metabolic-targeted therapies designed to address the underlying consequences of ABCD1 dysfunction, including very-long-chain fatty acid accumulation, mitochondrial impairment, and neurodegeneration.

ABCD1 gene replacement: Gene therapy represents the only approved disease-modifying therapeutic class in adrenoleukodystrophy. SKYSONA restores functional ABCD1 expression through autologous gene-modified hematopoietic stem cells, aiming to stabilize cerebral disease progression in eligible patients with early active cerebral adrenoleukodystrophy.

PPAR-Y agonists: This class is represented by Leriglitazone, which is being developed to address neuroinflammation, mitochondrial dysfunction, and neurodegeneration associated with adrenoleukodystrophy. The class is intended to provide a disease-modifying approach beyond the narrow treatment window of transplantation and gene therapy.

Thyroid hormone receptor beta agonists: VK0214 is designed to increase expression of ABCD2, a compensatory transporter that may partially substitute for defective ABCD1 function, thereby enhancing very-long-chain fatty acid metabolism and reducing lipid accumulation.

Overall, gene replacement therapies currently represent the most advanced disease-modifying approach in adrenoleukodystrophy, while emerging metabolic-targeted classes, including PPAR-Y agonists, thyroid hormone receptor beta agonists, and AMPK activators, are expanding the pipeline with the potential to address broader patient populations, particularly those with adrenomyeloneuropathy and advanced disease.

Adrenoleukodystrophy (ALD) Disease Drug Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during the forecast period (2026-2036). The analysis covers the ALD Disease drug's uptake, performance at peak, factors affecting performance during prime years of growth, patient uptake by therapy, and anticipated sales generated by each drug.

The uptake of therapies in ALD is expected to remain centered on HSCT and SKYSONA for eligible patients with early cerebral disease. HSCT is anticipated to maintain consistent use due to its established clinical benefit when administered before significant neurological progression, while SKYSONA is expected to see gradual adoption as the first approved gene therapy for cerebral adrenoleukodystrophy. However, uptake of SKYSONA is likely to remain limited by narrow patient eligibility, specialized treatment requirements, and the need for long-term safety monitoring.

Future treatment uptake is expected to be driven by emerging therapies such as Leriglitazone and VK0214, particularly in adrenomyeloneuropathy, where no approved disease-modifying therapies currently exist. Their adoption will depend on demonstrating meaningful clinical benefits on disease progression, neurological function, and long-term safety, while increasing newborn screening and earlier diagnosis are expected to support broader treatment utilization.

Detailed insights into emerging therapies' drug uptake are included in the report.

Market Access and Reimbursement of Adrenoleukodystrophy (ALD) Disease

Reimbursement is a crucial factor that affects the drug's access to the market. Often, the decision to reimburse comes down to the price of the drug relative to the benefit it produces in treated patients. To reduce the healthcare burden of these high-cost therapies, many payment models are being considered by payers and other industry insiders.

Adrenoleukodystrophy (ALD) Disease Therapies Price Scenario & Trends

Pricing and analogue assessment of ALD Disease therapies highlights evolving price dynamics structures. This section summarizes the cost of approved treatments, the closest and most appropriate analogue selection for emerging therapies, and the understanding of how pricing influences market access, adherence, and long-term uptake.

Further details are provided in the final report....

Industry Experts and Physician Views for Adrenoleukodystrophy (ALD) Disease

To keep up with ALD disease market trends, we take Key Opinion Leaders (KOLs) and Subject Matter Experts (SMEs) opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry experts were contacted for insights on the emerging ALD disease therapies, evolving treatment landscape, patient adherence to conventional therapies, therapy switching trends, drug adoption and uptake, accessibility challenges, and epidemiology and real-world prescription patterns in ALD disease, including MD, PhD, Instructor, Postdoctoral Researcher, Professor, Researcher, and others.

DelveInsight's analysts connected with 10+ KOLs to gather insights at the country level. Centers such as the Professor, Nephrologist, etc., were contacted. Their opinion helps understand and validate current and emerging ALD disease therapies, highlight unmet medical needs, provide epidemiological context, and support strategic decisions for market access, therapy adoption, and pipeline prioritization in ALD disease.

Qualitative Analysis: SWOT and Conjoint Analysis

We perform qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and conjoint analysis.

In the SWOT analysis of ALD Disease, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

Conjoint analysis analyzes emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

The team of analysts analyzes promising emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. In efficacy, the trial's primary and secondary outcome measures are evaluated, whereas the therapies' safety is evaluated, wherein the acceptability, tolerability, and adverse events are mainly observed. In addition, the scoring is also based on the route of administration, order of entry, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Scope of the Report:

  • The report covers a segment of key events, an executive summary, a descriptive overview of ALD Disease, explaining its causes, signs and symptoms, pathogenesis, and currently available treatments.
  • Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression along treatment guidelines.
  • Additionally, an all-inclusive account of both the current and emerging treatments, along with the elaborate profiles of late-stage and prominent therapies, will have an impact on the current treatment landscape.
  • A detailed review of the ALD Disease market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
  • The report provides an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the 7MM ALD Disease market.

Report Insights

  • Adrenoleukodystrophy (ALD) Disease Patient Population Forecast
  • Adrenoleukodystrophy (ALD) Disease Therapeutics Market Size
  • Adrenoleukodystrophy (ALD) Disease Pipeline Analysis
  • Adrenoleukodystrophy (ALD) Disease Market Size and Trends
  • Adrenoleukodystrophy (ALD) Disease Market Opportunity (Current and forecasted)

Report Key Strengths

  • Epidemiology-based (Epi-based) Bottom-up Forecasting
  • Artificial Intelligence (AI)-Enabled Market Research Report
  • 11-Year Forecast
  • Adrenoleukodystrophy (ALD) Disease Market Outlook (North America, Europe, Asia-Pacific)
  • Patient Burden Trends (By Geography)
  • Adrenoleukodystrophy (ALD) Disease Treatment Addressable Market (TAM)
  • Adrenoleukodystrophy (ALD) Disease Competitive Landscape
  • Adrenoleukodystrophy (ALD) Disease Major Companies Insights
  • Adrenoleukodystrophy (ALD) Disease Price Trends and Analogue Assessment
  • Adrenoleukodystrophy (ALD) Disease Therapies Drug Adoption/Uptake
  • Adrenoleukodystrophy (ALD) Disease Therapies Peak Patient Share Analysis

Report Assessment

  • Adrenoleukodystrophy (ALD) Disease Current Treatment Practices
  • Adrenoleukodystrophy (ALD) Disease Unmet Needs
  • Adrenoleukodystrophy (ALD) Disease Clinical Development Analysis
  • Adrenoleukodystrophy (ALD) Disease Emerging Drugs Product Profiles
  • Adrenoleukodystrophy (ALD) Disease Market Attractiveness
  • Adrenoleukodystrophy (ALD) Disease Qualitative Analysis (SWOT and conjoint analysis)

FAQs:

Market Insights

  • What was the ALD disease market size, the market size by therapies, the market share (%) distribution in 2025, and what would it look like by 2036? What are the contributing factors for this growth?
  • What are the anticipated pricing variations among different geographies for the emerging therapies in the future?
  • What can be the future treatment paradigm of ALD disease?
  • What are the disease risks, burdens, and unmet needs of ALD disease? What will be the growth opportunities across the 7MM concerning the patient population with ALD disease?
  • Who is the major future competitor in the market, and how will the competitors affect their market share?
  • What are the current options for the treatment of ALD disease? What are the current guidelines for treating ALD disease in the US, Europe, and Japan?

Reasons to Buy:

  • The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the ALD disease market.
  • Bottom up forecasting builds from the affected population to product forecasts, delivering a robust, data driven approach ideal for new therapies and novel classes.
  • Insights on patient burden/disease incidence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
  • Understand the existing market opportunities in varying geographies and the growth potential over the coming years.
  • Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
  • Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
  • To understand KOLs' perspectives on the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
  • Detailed insights into the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.
  • This Artificial Intelligence (AI) enabled report summarizes and simplifies complex datasets within the report into clear, actionable insights for stakeholders, investors, and healthcare providers, enabling faster, data driven decisions.

Table of Contents

1. Key Insights

2. Report Introduction

3. Executive Summary

4. Key Events

  • 4.1. Upcoming Key Catalysts
  • 4.2. Key Conferences And Meetings
  • 4.3. Key Transactions And Collaborations
  • 4.4. News Flow

5. Epidemiology and Market Forecast Methodology of ALD Disease

6. ALD Disease Market Overview at a Glance

  • 6.1. Clinical Landscape Analysis (by Molecule Type, Phase, and Route of Administration [ROA])
  • 6.2. Market Share of ALD Disease by Therapies (%) in the 7MM in 2025
  • 6.3. Market Share of ALD Disease by Therapies (%) in the 7MM in 2036

7. Disease Background And Overview of ALD Disease

  • 7.1. Introduction
  • 7.2. Causes and Symptoms of ALD Disease
  • 7.3. Classification and Severity Assessment of ALD Disease
    • 7.3.1. Stages of ALD Disease
  • 7.4. Pathophysiology of ALD Disease
  • 7.5. Genetic Basis of ALD Disease
  • 7.6. Diagnosis of ALD Disease
    • 7.6.1. Differential Diagnoses

8. Treatment and Guidelines

  • 8.1. Treatment and Management
  • 8.2. US Guidelines for ALD Disease
    • 8.2.1. Diagnosis, Evaluation, and the Use of Complementary and Procedural Management
  • 8.3. European Guidelines for the Management of ALD Disease
  • 8.4. Japanese Guidelines for the Management of ALD Disease

9. Epidemiology and Patient Population of ALD Disease

  • 9.1. Key Findings
  • 9.2. Assumptions and Rationale: The 7MM
    • 9.2.1. Total Prevalent Cases of ALD Disease in the 7MM
    • 9.2.2. Total Diagnosed Prevalent Cases of ALD Disease in the 7MM
  • 9.3. The United States
    • 9.3.1. ALD Disease Prevalent Cases in the United States
    • 9.3.2. ALD Disease Diagnosed Prevalent Cases in the United States
    • 9.3.3. ALD Disease Gender-specific Diagnosed Prevalent Cases in the United States
    • 9.3.4. ALD Disease Stage-specific Diagnosed Prevalent Cases in the United States
  • 9.4. EU4 and the UK
    • 9.4.1. ALD Disease Prevalent Cases in EU4 and the UK
    • 9.4.2. ALD Disease Diagnosed Prevalent Cases in EU4 and the UK
    • 9.4.3. ALD Disease Gender-specific Diagnosed Prevalent Cases in EU4 and the UK
    • 9.4.4. ALD Disease Stage-specific Diagnosed Prevalent Cases in EU4 and the UK
  • 9.5. Japan
    • 9.5.1. ALD Disease Prevalent Cases in Japan
    • 9.5.2. ALD Disease Diagnosed Prevalent Cases in Japan
    • 9.5.3. ALD Disease Gender-specific Diagnosed Prevalent Cases in Japan
    • 9.5.4. ALD Disease Stage-specific Diagnosed Prevalent Cases in Japan

10. Patient Journey of ALD Disease

11. Marketed Therapies

  • 11.1. Competitive Landscape of Marketed Therapies
  • 11.2. Elivaldogene autotemcel (SKYSONA): Genetix Biotherapeutics
    • 11.2.1. Product Description
    • 11.2.2. Regulatory Milestones
    • 11.2.3. Other Developmental Activities
    • 11.2.4. Summary of Pivotal Clinical Trials
    • 11.2.5. Analyst Views

12. Emerging Therapies

  • 12.1. Competitive Landscape of Emerging Therapies
  • 12.2. Leriglitazone (MIN-102): Minoryx Therapeutics
    • 12.2.1. Product Description
    • 12.2.2. Other Developmental Activities
    • 12.2.3. Clinical Development
    • 12.2.4. Clinical Trials Information
    • 12.2.5. Safety and Efficacy
    • 12.2.6. Analyst Views
  • 12.3. VK0214: Viking Therapeutics
    • 12.3.1. Product Description
    • 12.3.2. Other Developmental Activities
    • 12.3.3. Clinical Development
    • 12.3.4. Clinical Trial Information
    • 12.3.5. Safety and Efficacy
    • 12.3.6. Analyst Views

13. ALD Disease: Seven Major Market Analysis

  • 13.1. Key Findings
  • 13.2. Market Outlook
  • 13.3. Conjoint Analysis
  • 13.4. Key Market Forecast Assumptions
    • 13.4.1. Cost Assumptions and Rebates
    • 13.4.2. Pricing Trends
    • 13.4.3. Analogue Assessment
    • 13.4.4. Launch Year and Therapy Uptakes
  • 13.5. Total Market Size of ALD Disease in the 7MM
  • 13.6. Market Size of ALD Disease by Therapies in the 7MM
  • 13.7. The United States
    • 13.7.1. Total Market Size of ALD Disease in the United States
    • 13.7.2. Market Size of ALD Disease by Therapies in the United States
  • 13.8. EU4 and the UK
    • 13.8.1. Total Market Size of ALD Disease in EU4 and the UK
    • 13.8.2. Market Size of ALD Disease by Therapies in EU4 and the UK
  • 13.9. Japan
    • 13.9.1. Total Market Size of ALD Disease in Japan
    • 13.9.2. Market Size of ALD Disease by Therapies in Japan

14. Unmet Needs of ALD Disease

15. SWOT Analysis of ALD Disease

16. KOL Views of ALD Disease

  • 16.1. Expert/KOL Interview Highlights

17. Market Access and Reimbursement

  • 17.1. United States
    • 17.1.1. Centre for Medicare and Medicaid Services (CMS)
  • 17.2. EU4 and the UK
    • 17.2.1. Germany
    • 17.2.2. France
    • 17.2.3. Italy
    • 17.2.4. Spain
    • 17.2.5. United Kingdom
  • 17.3. Japan
  • 17.4. Summary and comparison of Market Access and Pricing Policy Developments in 2025
  • 17.5. Market Access and Reimbursement of ALD Disease Therapies

18. Appendix

  • 18.1. Bibliography
  • 18.2. Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight

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