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Disease

Hypomyelination with atrophy of basal ganglia and cerebellum

Late-stage therapeutic development

Also known as H-ABC.

19

Clinical trials

2

Associated genes

1

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate

Key developments

3 clinical trials expected to report results, the earliest in Q1 2027.

Upcoming Milestones

Q1 2027An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene Mutation
Q1 2028Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning
Q3 2028A Phase 2, Randomized, Double-blind, Sham Surgery-controlled Study of the Efficacy and Safety of Intraputaminal AAV2-GDNF in the Treatment of Adults With Moderate Stage Parkinson's Disease

Major developments

Major trial resultsHigh impact

Phase 3, Open-Label, Single-Arm Study to Evaluate the Efficacy and Safety of PF-07055480 (Recombinant AAV2/6 Human Factor VIII Gene Therapy) in Adult Male Participants With Moderately Severe to Severe Hemophilia A(FVIII:C≤1%)

Results posted2026-05-18

Major trial resultsImportant

Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion

Results posted2026-01-26

Clinical Milestones6View

Results posted 2

Results expected 3

2026-06-29A Phase 2, Randomized, Double-blind, Sham Surgery-controlled Study of the Efficacy and Safety of Intraputaminal AAV2-GDNF in the Treatment of Adults With Moderate Stage Parkinson's DiseaseResults expected Q3 2028
2026-05-15An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene MutationResults expected Q1 2027
2025-12-11Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan ConditioningResults expected Q1 2028

Other updates 1

2027-12-01Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn

Activity timeline6

2027-12-01ClinicalGuard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25Withdrawn
2026-06-29ClinicalA Phase 2, Randomized, Double-blind, Sham Surgery-controlled Study of the Efficacy and Safety of Intraputaminal AAV2-GDNF in the Treatment of Adults With Moderate Stage Parkinson's DiseaseResults expected Q3 2028
2026-05-18ClinicalPhase 3, Open-Label, Single-Arm Study to Evaluate the Efficacy and Safety of PF-07055480 (Recombinant AAV2/6 Human Factor VIII Gene Therapy) in Adult Male Participants With Moderately Severe to Severe Hemophilia A(FVIII:C≤1%)Results posted
2026-05-15ClinicalAn Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene MutationResults expected Q1 2027
2026-01-26ClinicalPhase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous InfusionResults posted
2025-12-11ClinicalPhase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan ConditioningResults expected Q1 2028

Clinical trials

16 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

19

All trials

6

Active

8

Late-stage

6

Completed

Late-stage studies

Phase 3, Open-Label, Single-Arm Study to Evaluate the Efficacy and Safety of PF-07055480 (Recombinant AAV2/6 Human Factor VIII Gene Therapy) in Adult Male Participants With Moderately Severe to Severe Hemophilia A(FVIII:C≤1%)

Phase 3 · Active, not recruiting · Pfizer

Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving Rapid Eye Movement Behavior Disorder with Parkinson's Disease

Phase 4 · Recruiting · Beijing Friendship Hospital

Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion

Phase 3 · Completed · Novartis Gene Therapies

A Randomized, Double-blind, Placebo-controlled Trial of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)

Phase 3 · Completed · ApoPharma

A Randomized Clinical Trial Comparing Computer-assisted Cognitive Rehabilitation (CACR), Psycho-stimulants, and Placebo CACR in the Treatment of Attention Deficit/ Hyperactivity Disorder

Phase 3 · Completed · Allameh Tabatabai University

Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25

Phase 2/3 · Withdrawn · AVROBIO

Recruiting

Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving Rapid Eye Movement Behavior Disorder with Parkinson's Disease

Phase 4 · Recruiting · Beijing Friendship Hospital

A Phase 2, Randomized, Double-blind, Sham Surgery-controlled Study of the Efficacy and Safety of Intraputaminal AAV2-GDNF in the Treatment of Adults With Moderate Stage Parkinson's Disease

Phase 2 · Recruiting · AskBio Inc

Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning

Phase 1/2 · Recruiting · David Williams

Recently completed

MCLENA-1: A Phase II Clinical Trial for the Assessment of Safety, Tolerability, and Efficacy of Lenalidomide in Patients With Mild Cognitive Impairment Due to Alzheimer's Disease

Phase 2 · Completed · St. Joseph's Hospital and Medical Center, Phoenix

A Phase 2a, Open Label Multicenter Clinical Trial to Evaluate the Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease

Phase 2 · Completed · Nanoscope Therapeutics Inc.

A Phase 2b Randomized, Double-Masked, Sham-Controlled, Study to Evaluate the Efficacy and Safety of Intravitreal Injection of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]

Phase 2 · Completed · Nanoscope Therapeutics Inc.

Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion

Phase 3 · Completed · Novartis Gene Therapies

A Randomized, Double-blind, Placebo-controlled Trial of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)

Phase 3 · Completed · ApoPharma

A Randomized Clinical Trial Comparing Computer-assisted Cognitive Rehabilitation (CACR), Psycho-stimulants, and Placebo CACR in the Treatment of Attention Deficit/ Hyperactivity Disorder

Phase 3 · Completed · Allameh Tabatabai University

Associated genes

2 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

TUBB4A0.76 UFM10.75

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Tubulin beta-4A chainvia TUBB4A0.76

Reference

Authoritative identity, definition & identifiers.

Synonyms

H-ABC

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Related entities are derived from literature co-mention (studied together) — associative, not causal.