Access Iris's Clinical Information
Iris Hope LaValle has already done what many thought impossible — she celebrated her first birthday. She has one of the most deeply phenotyped cases of MRPL39 mitochondrial disease ever documented, and her family actively seeks collaboration with clinicians, scientists, and translational researchers who believe something can be done.
At a Glance
Gene: MRPL39 — nuclear-encoded large mitoribosomal subunit component
Variants: Compound heterozygous — maternal intronic c.589-924G>A (splice) + paternal c.526del (frameshift)
Phenotype: Leigh Syndrome, hypertrophic cardiomyopathy, central respiratory failure, TPN-dependent
Mechanism: Primary mitochondrial translation defect; near-absent MRPL39 protein; mitoribosomal instability
Data available: Serial MRI/MRS, EEG, cardiac imaging, RNA-seq, nutritional data, full clinical records
Three ways to take action right now
Download Clinical Summary
A 2-page structured clinical summary covering genetics and molecular findings, core phenotype, respiratory course, cardiac phenotype, neurological imaging, translational rationale, and collaboration opportunities.
Download PDFRequest Full Records
Submit a request for clinical records including imaging reports, EEG interpretations, genetic reports, RNA sequencing data, cardiac studies, and clinical notes. Serious research inquiries only. All requests reviewed by the family.
Request RecordsSchedule a Meeting
Casey and Amanda LaValle are medically informed, deeply engaged parents who can discuss Iris's case in clinical detail. They welcome virtual meetings with mitochondrial specialists, gene therapy groups, ASO researchers, and translational teams exploring MRPL39-directed work.
Request a MeetingWhy this case matters to the field
MRPL39 disease is rare, poorly characterized, and has no approved therapy. Iris's case offers a uniquely deep phenotyping dataset and a family ready to collaborate — right now.
Nuclear target — highly accessible for gene therapy
Unlike mtDNA-encoded targets, MRPL39 is nuclear. This makes it directly addressable by AAV, ASO, CRISPR, and other established platforms. The maternal allele's splice defect is a textbook ASO target.
Serial multimodal data — rare in this disease
Serial EEG, MRI/MRS, echocardiography, RNA sequencing, and complete clinical records. This is unusually rich data for a case of this rarity. Available for review by qualified collaborators.
Patient-derived fibroblasts available
Skin fibroblasts can be established for biochemical studies and iPSC derivation. This enables in vitro rescue testing — the foundation of any preclinical therapeutic program.
Medically literate, ready to collaborate
Casey and Amanda LaValle hold advanced degrees, understand the science, and are open to collaboration under appropriate ethical oversight. They can discuss their daughter's case with clinical precision.
Download Iris's Clinical Summary
A 2-page structured PDF covering genetics, phenotype, clinical course, translational rationale, and collaboration opportunities. Intended as an entry point for serious clinical and research engagement.
Biallelic MRPL39 Loss Causing Severe Infantile Mitochondrial Translation Failure — Clinical Summary
Covers: patient overview, genetics and molecular findings, core clinical phenotype (respiratory, cardiac, neurological, nutritional), translational relevance, available collaboration opportunities, and contact information.
Request Full Medical Records
Qualified clinicians and researchers may request clinical records including imaging reports, EEG data, genetic reports, RNA-seq results, and clinical notes. All requests are reviewed and fulfilled personally by the family.
Please complete this form to request access to Iris's medical records. The family will review your request and respond within 3–5 business days. For urgent clinical consultations, please use the meeting request form below or email [email protected] directly.
Request Received
Thank you for reaching out. Casey and Amanda LaValle will review your request and respond to your professional email within 3–5 business days.
Request a Meeting with the Family
Casey and Amanda LaValle are available for virtual meetings with clinicians, researchers, foundation staff, and translational teams. They can discuss Iris's case in clinical detail and explore how collaboration might move forward.
Father. Available to discuss genetics, hospital course, and research strategy.
Mother. Speech-language pathologist with direct expertise in Iris's feeding, communication, and neurological presentation.
Meeting Request Received
Thank you for your interest in Iris's case. Casey and Amanda will review your request and be in touch within a few business days to confirm a time.