Actively Recruiting

Phase 1
Age: 18Years - 65Years
All Genders
ID06395285

A Phase Ib Open-Label Study Evaluating Safety and Pharmacokinetics of Oral DF-003 in Patients With ROSAH Syndrome

Led by Shanghai Yao Yuan Biotechnology Ltd. (also known as Drug Farm) · Updated on 2026-06-05

12

Participants Needed

5

Research Sites

17 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are evaluating the safety and tolerability of an oral drug called DF-003 in patients with ROSAH syndrome, a condition involving retinal dystrophy, optic nerve swelling, enlarged spleen, lack of sweating, and migraine headaches. This Phase Ib, open-label study will enroll up to 12 patients to investigate how the drug is processed in the body and its effects on the disease. The study aims to better understand DF-003's safety profile and biological activity in this rare condition. Participants will receive DF-003 orally once daily for 28 days. The dosing starts with higher loading doses of 140 mg on the first three days, followed by a maintenance dose of 45 mg from Day 4 through Day 28. The drug is taken in the morning with water. After completing the dosing period, patients will be followed for an additional 8 weeks to monitor ongoing effects and safety. During the study, patients will have regular assessments to monitor eye inflammation signs such as macular edema and optic nerve swelling, along with blood tests measuring inflammatory markers and drug levels. Safety will be closely monitored by recording adverse events from baseline through Day 78. The study includes detailed pharmacokinetic sampling to understand how DF-003 behaves in the body. Participation spans about 11 weeks from the start of treatment through follow-up evaluations.

CONDITIONS

Brief Title

Evaluating the Safety and Tolerability of Orally Administered DF-003 in ROSAH Syndrome Patients

Who Can Participate

Age: 18Years - 65Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Understanding of the study purpose and procedures
  • Body mass index (BMI) between 18.0 and 35.0 kg/m2
  • Genetic confirmation of ALPK1 mutations linked to ROSAH syndrome
  • Presence of eye inflammation signs such as macular edema or optic nerve edema
  • Healthy except for ROSAH syndrome diagnosis
  • Age between 18 and 65 years at screening
Not Eligible

You will not qualify if you...

  • Males planning to father a child or donate sperm during the study or within 90 days after last dose
  • Females who are pregnant, breastfeeding, planning pregnancy, or donating eggs during the study or within 90 days after last dose
  • Use of prohibited medications with anti-inflammatory effects or risk of kidney/liver toxicity
  • Use of moderate or strong CYP3A4 inhibitors or inducers
  • Use of digoxin or medications known to cause Torsade de Pointes
  • Use of investigational agents, vaccines, or invasive devices within specified time frames
  • History of severe allergic reactions to DF-003 or related products
  • Recent significant lab abnormalities including low platelets, elevated liver enzymes, bilirubin, INR, low albumin, reduced kidney function, or high HbA1c
  • Moderate or severe liver impairment (Child-Pugh class B or C)

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - 28 days (4 weeks)

Participants take oral doses of DF-003 once daily for 28 days, starting with loading doses on Days 1 to 3 followed by maintenance doses from Day 4 through Day 28.

Multiple visits during dosing period for assessments

Follow-up

Duration - 8 weeks

Participants are monitored for safety and treatment effects for 8 weeks after the last dose of DF-003.

Periodic visits during follow-up period for assessments

Trial Site Locations

Total: 5 locations

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Withdrawn

2

Duke Eye Center - Duke University Hospital

Durham, North Carolina, United States, 27705

Actively Recruiting

3

John A. Moran Eye Center - University of Utah Health

Salt Lake City, Utah, United States, 84132

Actively Recruiting

4

Save Sight Institute - University of Sydney Eye Hospital

Sydney, New South Wales, Australia, 2000

Actively Recruiting

5

Peking Union Medical College Hospital

Beijing, China, 100730

Actively Recruiting

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Research Team

K

Kenneth Truitt, MD

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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