13 closest matches · ranked by relevance
Bardet Biedl Syndrome (BBS) · Alström Syndrome (AS)
Primary: Percentage of Participants (≥12 Years of Age at Baseline) Who Reached ≥10% Weight Loss Threshold After 1 Year (Period 2): Pivotal Cohort — 32.3 percentage of…
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Bardet-Biedl Syndrome · POMC Deficiency Obesity · PCSK1 Deficiency Obesity
Primary: Percentage of Participants With Greater Than or Equal to (≥) 0.2 Reduction of BMI Z-Score From Baseline to Week 52 — 85.7; 80.0 percentage of participants
Albinism · Vision Loss
Primary: Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 12 Months as Compared to Baseline. Participants Left and Right Eyes Will be…
Barth Syndrome
Primary: Part 1: Distance Walked During the 6-Minute Walk Test (6MWT) by Visit — 400.1; 412.6; 443.1; 443.9 meters
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
Usher Syndrome, Type 1B
Primary: BCVA - Better Seeing Eyes — -2.26 ETDRS score — p=<0.01
Alport Syndrome
Primary: Change From Baseline in Estimated Glomerular Filtration Rate (eGFR) After 12 Weeks of Treatment (Phase 2) — 13.37 mL/min/1.73 m^2 — p=<0.0001
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
IgA Nephropathy · CKD Associated With Type 1 Diabetes · Focal Segmental Glomerulosclerosis
Primary: Change From Baseline in Estimated Glomerular Filtration Rate (eGFR) at Week 12 — 9.31; 8.00; 5.46; 7.83 mL/min/1.73 m^2 — p=<0.0001
Basal Cell Nevus Syndrome
Primary: Number of New BCCs Per Participant — 2.84; 4.03 New basal cell carcinomas
Birt-Hogg-Dube Syndrome
Primary: Number of Patients With Birt-Hogg-Dube Syndrome Who Experienced Spontaneous Pneumothorax During or Within 24 Hours Following Air Travel — 8 Participants
Metabolic Syndrome · Autonomic Neuropathy
Primary: Four Square Step Test (FSST) — 11.04; 14.29 seconds